Canonical Allele Identifier: CA408260371
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1272009844
gnomAD v2: 20-6750938-G-T
gnomAD v3: 20-6770291-G-T
gnomAD v4: 20-6770291-G-T
MyVariant Identifiers: chr20:g.6750938G>T (hg19) chr20:g.6770291G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770291G>T , CM000682.2:g.6770291G>T GRCh38
NC_000020.10:g.6750938G>T , CM000682.1:g.6750938G>T GRCh37
NC_000020.9:g.6698938G>T NCBI36
NG_023233.1:g.7194G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.165G>T MANE Select ENSP00000368104.3:p.Leu55Phe
ENST00000378827.4:c.165G>T ENSP00000368104.3:p.Leu55Phe
NM_001200.2:c.165G>T NP_001191.1:p.Leu55Phe
XM_011529323.1:c.-123+1416G>T XP_011527625.1:n.-123+1416G>T
NM_001200.3:c.165G>T NP_001191.1:p.Leu55Phe
NM_001200.4:c.165G>T MANE Select NP_001191.1:p.Leu55Phe
Search 100 bp 5'
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